rs1057520611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four previously reported polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A>G in BRCA2) were detected in both controls and breast cancer patients.
|
17018160 |
2006 |
rs1135401927
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs11571653
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively.
|
28419251 |
2017 |
rs11571653
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, a significant increase in breast cancer risk (odds ratio, 2.03; 95% confidence interval, 1.07-3.87) was observed in carriers of the variant allele (V784) of the M/V784 polymorphism as compared with noncarriers after adjustment for the classical risk factors, age, family history, parity, body mass index, and so forth.
|
12684407 |
2003 |
rs11571653
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results further suggest that the CHEK2-1100delC mutation in combination with BRCA2-Met784Val may lead to an unexpected high risk which needs to be confirmed in larger cohorts in order to better understand their role in the development and prognosis of breast cancer.
|
23803109 |
2013 |
rs11571707
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study.
|
19851859 |
2010 |
rs11571747
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs11571769
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk.
|
25838448 |
2015 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer.
|
26586665 |
2016 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.
|
26455428 |
2015 |
rs11571833
|
|
T |
0.740 |
GeneticVariation |
GWASDB |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
rs11571833
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer.
|
26041759 |
2015 |
rs1298550035
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1334767632
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu.
|
31754952 |
2020 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P.
|
16485136 |
2006 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results suggest that the M/V784 polymorphism, but not the N/H372 polymorphism, would be useful in the selection of women at high risk for developing breast cancer and would also serve as a clinically useful prognostic factor in breast cancer patients.
|
12684407 |
2003 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Overall, no significant associations were found between BRCA2 N372H polymorphism and breast cancer risk when all studies pooled into the meta-analysis (NH versus NN: OR = 1.01, 95% CI = 0.97-1.05; HH versus NN: OR = 1.05, 95% CI = 0.97-1.13; dominant model: OR = 1.01, 95% CI = 0.98-1.05; and recessive model: OR = 1.05, 95% CI = 0.98-1.13).
|
20135345 |
2010 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group.
|
11062481 |
2000 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations.
|
17767707 |
2007 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women.
|
11927503 |
2002 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer.
|
12496039 |
2002 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Modulation of HAT activity by BRCA2 N372H variation is a new mechanism of paclitaxel resistance in breast cancer.
|
28431939 |
2017 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The BRCA2 homozygous variation p.N372H, previously associated with an increased risk for developing breast cancer, was not identified in this study.
|
15918047 |
2005 |
rs144848
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia.
|
16257105 |
2006 |